マルファン症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)	FBN1	Pathogenic/Likely pathogenic	15	48797278	48797278	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392339070
single nucleotide variant	NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)	FBN1	Pathogenic/Likely pathogenic	15	48741010	48741010	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392341877
single nucleotide variant	NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)	FBN1	Pathogenic/Likely pathogenic	15	48888522	48888522	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446313
single nucleotide variant	NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)	FBN1	Pathogenic/Likely pathogenic	15	48796047	48796047	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392338320
single nucleotide variant	NM_000138.5(FBN1):c.2673A>G (p.Gln891=)	FBN1	Pathogenic/Likely pathogenic	15	48787324	48787324	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA490021918
single nucleotide variant	NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48786406	48786406	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392331594
single nucleotide variant	NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)	FBN1	Pathogenic/Likely pathogenic	15	48777660	48777660	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392324601
single nucleotide variant	NM_000138.5(FBN1):c.4816+1G>T	FBN1	Pathogenic/Likely pathogenic	15	48757986	48757986	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392351517
single nucleotide variant	NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48748911	48748911	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392346189
single nucleotide variant	NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser)	FBN1	Pathogenic/Likely pathogenic	15	48722988	48722988	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392332895